Literature DB >> 18601960

Respiratory-chain diseases related to complex III deficiency.

Paule Bénit1, Sophie Lebon, Pierre Rustin.   

Abstract

Complex III deficiencies are among the least common respiratory-chain abnormalities identified to date in humans. Nevertheless, their unexplained tissue specificity and broad clinical spectrum make them a valuable model for investigating respiratory-chain diseases. In this review, we briefly discuss the properties of complex III and the assay conditions relevant to the screening of high-risk patients. We then review the most recent advances in the field, which include the characterization of several disease genes and of the corresponding clinical presentations. Finally, we discuss genetic and biochemical aspects that may help to understand complex III-associated diseases.

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Year:  2008        PMID： 18601960     DOI： 10.1016/j.bbamcr.2008.06.004

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  34 in total

Review 1.  Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors.

Authors:  Alessandra Torraco; Susana Peralta; Luisa Iommarini; Francisca Diaz
Journal:  Mitochondrion       Date:  2015-02-04       Impact factor: 4.160

Review 2.  Mitochondrial disorders caused by mutations in respiratory chain assembly factors.

Authors:  Francisca Diaz; Heike Kotarsky; Vineta Fellman; Carlos T Moraes
Journal:  Semin Fetal Neonatal Med       Date:  2011-06-15       Impact factor: 3.926

3.  Complex III staining in blue native polyacrylamide gels.

Authors:  Joél Smet; Boel De Paepe; Sara Seneca; Willy Lissens; Heike Kotarsky; Linda De Meirleir; Vineta Fellman; Rudy Van Coster
Journal:  J Inherit Metab Dis       Date:  2011-04-12       Impact factor: 4.982

Review 4.  Metabolic enzymes dysregulation in heart failure: the prospective therapy.

Authors:  Priyanka Parihar; Mordhwaj Singh Parihar
Journal:  Heart Fail Rev       Date:  2017-01       Impact factor: 4.214

5.  The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.

Authors:  Anna Ghelli; Concetta V Tropeano; Maria Antonietta Calvaruso; Alessandra Marchesini; Luisa Iommarini; Anna Maria Porcelli; Claudia Zanna; Vera De Nardo; Andrea Martinuzzi; Flemming Wibrand; John Vissing; Ivana Kurelac; Giuseppe Gasparre; Nur Selamoglu; Fevzi Daldal; Michela Rugolo
Journal:  Hum Mol Genet       Date:  2013-02-14       Impact factor: 6.150

6.  Respiratory chain enzyme deficiency induces mitochondrial location of actin-binding gelsolin to modulate the oligomerization of VDAC complexes and cell survival.

Authors:  Alberto García-Bartolomé; Ana Peñas; Lorena Marín-Buera; Teresa Lobo-Jarne; Rafael Pérez-Pérez; María Morán; Joaquín Arenas; Miguel A Martín; Cristina Ugalde
Journal:  Hum Mol Genet       Date:  2017-07-01       Impact factor: 6.150

7.  Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Authors:  Célia Nogueira; José Barros; Maria José Sá; Luísa Azevedo; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; João Teixeira; Rosalba Carrozzo; Manuel Melo Pires; Laura Vilarinho; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2013-03-28       Impact factor: 2.660

8.  Analysis of transcriptional profiles of Saccharomyces cerevisiae exposed to bisphenol A.

Authors:  Ceyhun Bereketoglu; Kazim Yalcin Arga; Serpil Eraslan; Bulent Mertoglu
Journal:  Curr Genet       Date:  2016-07-26       Impact factor: 3.886

9.  A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

Authors:  Francisca Diaz; Sofia Garcia; Kyle R Padgett; Carlos T Moraes
Journal:  Hum Mol Genet       Date:  2012-08-21       Impact factor: 6.150

10.  A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.

Authors:  C B Jackson; M F Bauer; A Schaller; U Kotzaeridou; A Ferrarini; D Hahn; H Chehade; F Barbey; C Tran; S Gallati; A Haeberli; S Eggimann; L Bonafé; J-M Nuoffer
Journal:  Eur J Pediatr       Date:  2015-11-13       Impact factor: 3.183
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